Cancer Protein Description
This report provides a detailed description of a selected cancer protein with information collected from various sources, including UniProt, the Wellcome Trust Sanger Institute’s Catalogue of Somatic Mutations in Cancer (COSMIC), and the Atlas of Genetics and Cytogenetics in Oncology and Haematology.
Protein Name: | BIN1 |
Gene Name: | BIN1 |
Protein Full Name: | Myc box-dependent-interacting protein 1 |
Alias: | AMPH2; Amphiphysin II; Amphiphysin-like protein; AMPHL; Box-dependent myc- interacting protein-1; Box-dependent myc-interacting protein 1; Bridging integrator 1; Myc box dependent interacting protein 1; SH3P9 |
Mass (Da): | 64699 |
Number AA: | 593 |
UniProt ID: | O00499 |
Locus ID: | 274 |
COSMIC ID: | BIN1 |
Gene location on chromosome: | 2q14.3 |
Cancer protein type: | TSP |
Effect of cancer mutation on protein: | LOSS |
Effect of active protein on cancer: | INHIBIT |
Number of cancer specimens: | 19720 |
Percent of cancer specimens with mutations: | 0.53 |
Mutations observed as inherited: | NA |
Found in amplified chromosomal regions in human cancers: | NA |
Deregulated in translocations: | NA |
Deregulated by viral insertion: | NA |
Transduced into viral genome: | NA |
Gene undergoes hypermethylation: | NA |
Normal role description: | BIN1 encodes several isoforms of a ubiquitously-expressed cytoplasmic/nuclear adaptor protein. One isoform may be a tumour suppressor protein by inhibiting malignant cell transformation via interaction with Myc, while another may activate caspase-independent apoptosis. Other isoforms may play a role in regulating synaptic vesicle endocytosis. Cells overexpressing BIN1 grew more slowly than control myoblasts in culture, while loss of BIN1 has been associated with liver, lung, colon, skin, prostate, neuroblastoma, and breast cancer. |